Hb Evanston alpha14(A12)Trp->Arg
         
CONTACT Internal
HEMATOLOGY Mild anemia; microcytosis; associated with alpha-thal-2
ELECTROPHORESIS Migrates to the position of Hb S at alkaline pH; no separation from Hb A by citrate agar at acidic pH
CHROMATOGRAPHY Hb X was isolated by DEAE chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation TGG->AGG; alpha2 or alpha1
FUNCTIONAL STUDIES Increased oxygen affinity; Bohr and cooperativity effects normal
STABILITY Normal
OCCURRENCE Found in two Black families
OTHER INFORMATION Quantity in heterozygotes not clearly established
       
REFERENCES
1. Honig, G.R., Shamsuddin, M., Vida, L.N., Mompoint, M., Bowie, L., Jones, E., and Weil, S.: Blood, 60:53a (Suppl. 1), 1982.
2. Moo-Penn, W.F., Baine, R.M., Jue, D.L., Johnson, M.H., McGuffey, J.E., and Benson, J.M.: Biochim. Biophys. Acta, 747:65, 1983.


This material is from the book A Syllabus of Human Hemoglobin Variants (1996) by Titus H.J. Huisman, Marianne F.H. Carver, and Georgi D. Efremov, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1996 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without written permission.